Variant report

Variant	rs2409663
Chromosome Location	chr8:10643233-10643234
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10089615	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10091836	0.83[ASN][1000 genomes]
rs10092781	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs10095737	0.84[ASN][1000 genomes]
rs10097283	0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10097531	0.81[CHB][hapmap]
rs10099137	0.82[CHB][hapmap]
rs10100265	0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10105487	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10107180	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs10107289	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10107303	0.81[ASN][1000 genomes]
rs10113343	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs10481451	0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1073913	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10903330	0.95[JPT][hapmap]
rs1115866	1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1115867	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11250070	0.82[ASN][1000 genomes]
rs11250073	0.91[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap]
rs11250074	0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11250076	0.94[EUR][1000 genomes]
rs11250077	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11250078	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs11993903	0.80[JPT][hapmap]
rs12056936	0.81[ASN][1000 genomes]
rs12542888	0.91[CHB][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12676417	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs13276026	0.88[ASN][1000 genomes]
rs1821001	0.82[ASN][1000 genomes]
rs1821002	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1897207	0.88[ASN][1000 genomes]
rs1968400	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1968401	0.91[ASN][1000 genomes]
rs2005309	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2005311	0.82[ASN][1000 genomes]
rs2033369	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs2116093	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2116095	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2116096	0.84[ASN][1000 genomes]
rs2280047	0.81[ASN][1000 genomes]
rs2409658	0.82[ASN][1000 genomes]
rs2409669	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28570522	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2898248	0.95[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs2898251	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4240669	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4240670	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4321967	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4504595	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4551304	0.83[ASN][1000 genomes]
rs4593498	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4840513	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4840516	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4840517	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4841441	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6601520	0.81[ASN][1000 genomes]
rs6601521	0.86[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs6601522	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6601523	0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6601524	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs6601525	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs6601527	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601529	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6601530	0.95[JPT][hapmap]
rs6984744	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6989072	0.82[ASN][1000 genomes]
rs6989370	0.91[ASN][1000 genomes]
rs6993841	0.81[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6994595	0.81[ASN][1000 genomes]
rs7002117	0.90[ASN][1000 genomes]
rs7002282	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7010926	0.83[ASN][1000 genomes]
rs7014168	0.84[ASN][1000 genomes]
rs7015129	0.83[ASN][1000 genomes]
rs7018334	0.85[EUR][1000 genomes]
rs718741	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs718742	0.91[ASN][1000 genomes]
rs733395	0.81[ASN][1000 genomes]
rs733396	0.81[ASN][1000 genomes]
rs73544343	0.82[ASN][1000 genomes]
rs736668	0.81[ASN][1000 genomes]
rs736669	0.81[ASN][1000 genomes]
rs752446	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7813706	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7814142	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823088	0.83[ASN][1000 genomes]
rs7826180	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs7826189	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs7826218	0.81[ASN][1000 genomes]
rs7826392	0.81[ASN][1000 genomes]
rs7826458	0.81[CHB][hapmap]
rs7830528	0.84[ASN][1000 genomes]
rs7834466	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7836833	0.82[ASN][1000 genomes]
rs7838341	0.82[CHB][hapmap]
rs891556	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9329231	0.91[ASN][1000 genomes]
rs9644730	0.81[ASN][1000 genomes]
rs9969626	0.95[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
8	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1024806	chr8:10605438-10662555	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1031709	chr8:10610545-10657726	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2764105	chr8:10610557-10657726	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
14	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1023085	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv539470	chr8:10617908-10657584	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
18	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
19	nsv1026230	chr8:10618928-10652924	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv539472	chr8:10618928-10652924	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2409663	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:10618800-10646200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:10618800-10665200	Weak transcription	Fetal Brain Female	brain
4	chr8:10619200-10644800	Weak transcription	Small Intestine	intestine
5	chr8:10619200-10656400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:10619400-10661600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:10620000-10669800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:10620200-10645000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:10621200-10662000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:10621400-10656000	Weak transcription	HepG2	liver
11	chr8:10622800-10656000	Weak transcription	A549	lung
12	chr8:10623200-10650000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:10623400-10646400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:10623400-10656800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:10623400-10662600	Weak transcription	Fetal Thymus	thymus
16	chr8:10623400-10662800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr8:10623400-10665000	Weak transcription	Fetal Intestine Large	intestine
18	chr8:10623600-10643800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:10623600-10644200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:10623600-10648800	Weak transcription	Fetal Intestine Small	intestine
21	chr8:10623600-10667000	Weak transcription	Thymus	Thymus
22	chr8:10623800-10648800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:10623800-10649600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:10623800-10656800	Weak transcription	Gastric	stomach
25	chr8:10624000-10649600	Weak transcription	Pancreas	Pancrea
26	chr8:10624200-10644000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:10624800-10646800	Weak transcription	Brain Germinal Matrix	brain
28	chr8:10630400-10646200	Weak transcription	GM12878-XiMat	blood
29	chr8:10634400-10645800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:10634400-10646400	Weak transcription	Lung	lung
31	chr8:10634400-10646600	Weak transcription	Spleen	Spleen
32	chr8:10634600-10647200	Weak transcription	Fetal Stomach	stomach
33	chr8:10634800-10645800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:10635000-10647000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr8:10635000-10652200	Weak transcription	Liver	Liver
36	chr8:10635400-10664400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:10635600-10643800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:10635600-10644000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:10635600-10645600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:10635600-10645800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:10635600-10646200	Weak transcription	Esophagus	oesophagus
42	chr8:10635600-10646600	Weak transcription	Right Ventricle	heart
43	chr8:10635600-10656800	Weak transcription	Ovary	ovary
44	chr8:10636200-10643400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:10636200-10646400	Weak transcription	Placenta	Placenta
46	chr8:10636400-10646200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:10636600-10646200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:10636800-10645600	Weak transcription	Brain Substantia Nigra	brain
49	chr8:10636800-10646200	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:10637000-10645800	Weak transcription	Brain Angular Gyrus	brain

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